TABLE 3.
Demographic and phenotypic features of 158 individuals with SATB2-associated syndrome.
| Characteristic (N with data) | All patients (n = 158) |
|---|---|
| Demographics | |
| Male (152) | 90 (59.2%) |
| Mean age, years (152) | 9.5 ± 7.5 |
| Molecular mechanism | |
| Missense | 49 (31.0%) |
| Nonsense | 38 (24.1%) |
| Frameshift | 32 (20.3%) |
| Splicing | 7 (4.4%) |
| In-frame insertion | 1 (0.6%) |
| Intragenic deletion | 22 (13.9%) |
| Translocations | 6 (3.8%) |
| Intragenic duplication | 3 (1.9%) |
| Phenotype | |
| Neurodevelopmental abnormalities | |
| Developmental delay (157) | 157 (100%) |
| No words for speech (152) | 66 (43.4%) |
| Autistic behavior (145) | 29 (20.0%) |
| Dental anomalies (137) | 135 (98.5%) |
| Sialorrhea (109) | 96 (88.1%) |
| Facial dysmorphism (127) | 107 (84%) |
| Low BMD (46) | 33 (71.7%) |
| Feeding difficulties (130) | 89 (68.5%) |
| Hypotonia (114) | 67 (58.8%) |
| Sleeping difficulties (109) | 55 (50.5%) |
| Abnormal neuroimaging (108) | 50 (46.3%) |
| Sleeping difficulties (145) | 66 (45.5%) |
| Cleft palate (154) | 70 (45.5%) |
| Strabismus (143) | 51 (35.7%) |
| Agitation/aggressive (145) | 45 (31.0%) |
| Growth retardation (144) | 44 (30.6%) |
| Clinical seizures (143) | 29 (20.3%) |
| Hyperactivity (145) | 29 (20.0%) |